Incidental Mutation 'IGL01286:4921524L21Rik'
| ID |
72737 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
4921524L21Rik
|
| Ensembl Gene |
ENSMUSG00000039540 |
| Gene Name |
RIKEN cDNA 4921524L21 gene |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.072)
|
| Stock # |
IGL01286
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
18 |
| Chromosomal Location |
6603629-6638970 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 6629578 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Serine
at position 214
(C214S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000035514
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044829]
|
| AlphaFold |
Q9D5T2 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000044829
AA Change: C214S
PolyPhen 2
Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000035514
Gene: ENSMUSG00000039540
AA Change: C214S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF3496
|
131 |
235 |
6.9e-12 |
PFAM |
|
coiled coil region
|
269 |
292 |
N/A |
INTRINSIC |
|
low complexity region
|
408 |
419 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankrd26 |
A |
T |
6: 118,536,068 (GRCm39) |
V122E |
probably damaging |
Het |
| Blnk |
T |
C |
19: 40,922,950 (GRCm39) |
K389R |
probably benign |
Het |
| Cdcp3 |
A |
T |
7: 130,848,432 (GRCm39) |
N862I |
probably damaging |
Het |
| Cdh11 |
T |
A |
8: 103,391,261 (GRCm39) |
Q325L |
probably damaging |
Het |
| Cep112 |
T |
C |
11: 108,750,235 (GRCm39) |
|
probably null |
Het |
| Cmtr2 |
T |
A |
8: 110,949,484 (GRCm39) |
I598N |
possibly damaging |
Het |
| Col1a2 |
A |
C |
6: 4,533,891 (GRCm39) |
E857D |
unknown |
Het |
| Col2a1 |
G |
A |
15: 97,892,759 (GRCm39) |
P237L |
unknown |
Het |
| Commd2 |
G |
A |
3: 57,558,143 (GRCm39) |
T66M |
probably benign |
Het |
| Cyp2c50 |
A |
T |
19: 40,080,728 (GRCm39) |
K241N |
probably benign |
Het |
| Fbxo2 |
A |
G |
4: 148,250,163 (GRCm39) |
N231S |
probably benign |
Het |
| Grm5 |
T |
C |
7: 87,251,773 (GRCm39) |
S8P |
probably benign |
Het |
| Ip6k1 |
A |
G |
9: 107,923,082 (GRCm39) |
T405A |
probably benign |
Het |
| Kel |
G |
T |
6: 41,665,051 (GRCm39) |
|
probably null |
Het |
| Lin54 |
T |
C |
5: 100,633,466 (GRCm39) |
T73A |
probably benign |
Het |
| Nek1 |
T |
A |
8: 61,577,250 (GRCm39) |
V1052D |
possibly damaging |
Het |
| Or4p22 |
T |
A |
2: 88,317,592 (GRCm39) |
I172K |
probably damaging |
Het |
| Or6c6 |
T |
A |
10: 129,186,519 (GRCm39) |
L29H |
probably damaging |
Het |
| Pcid2 |
T |
C |
8: 13,140,660 (GRCm39) |
D155G |
probably damaging |
Het |
| Ptchd1 |
T |
C |
X: 154,357,820 (GRCm39) |
T462A |
possibly damaging |
Het |
| Pxdn |
A |
G |
12: 30,032,753 (GRCm39) |
E179G |
probably benign |
Het |
| Rfc2 |
T |
C |
5: 134,618,243 (GRCm39) |
L82P |
probably damaging |
Het |
| Sh3rf2 |
T |
C |
18: 42,272,676 (GRCm39) |
|
probably null |
Het |
| Sis |
A |
T |
3: 72,848,358 (GRCm39) |
W639R |
probably damaging |
Het |
| Tbcd |
T |
C |
11: 121,384,719 (GRCm39) |
|
probably null |
Het |
| Tert |
G |
A |
13: 73,776,416 (GRCm39) |
R389H |
possibly damaging |
Het |
| Tns3 |
C |
T |
11: 8,442,617 (GRCm39) |
S582N |
probably benign |
Het |
| Tssk2 |
C |
T |
16: 17,716,822 (GRCm39) |
T75I |
probably benign |
Het |
| Txnl4a |
C |
T |
18: 80,261,956 (GRCm39) |
T64I |
probably benign |
Het |
| Xpot |
T |
C |
10: 121,438,243 (GRCm39) |
D782G |
probably benign |
Het |
|
| Other mutations in 4921524L21Rik |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01402:4921524L21Rik
|
APN |
18 |
6,638,653 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
IGL01404:4921524L21Rik
|
APN |
18 |
6,638,653 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
IGL02680:4921524L21Rik
|
APN |
18 |
6,635,949 (GRCm39) |
splice site |
probably benign |
|
|
PIT4812001:4921524L21Rik
|
UTSW |
18 |
6,630,053 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R0532:4921524L21Rik
|
UTSW |
18 |
6,638,618 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R1069:4921524L21Rik
|
UTSW |
18 |
6,624,037 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1706:4921524L21Rik
|
UTSW |
18 |
6,624,059 (GRCm39) |
splice site |
probably benign |
|
|
R1768:4921524L21Rik
|
UTSW |
18 |
6,623,470 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R1912:4921524L21Rik
|
UTSW |
18 |
6,620,205 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R3820:4921524L21Rik
|
UTSW |
18 |
6,630,166 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3840:4921524L21Rik
|
UTSW |
18 |
6,620,104 (GRCm39) |
missense |
probably benign |
0.44 |
|
R3841:4921524L21Rik
|
UTSW |
18 |
6,620,104 (GRCm39) |
missense |
probably benign |
0.44 |
|
R4201:4921524L21Rik
|
UTSW |
18 |
6,623,952 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R4852:4921524L21Rik
|
UTSW |
18 |
6,623,488 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4852:4921524L21Rik
|
UTSW |
18 |
6,623,487 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R5218:4921524L21Rik
|
UTSW |
18 |
6,629,628 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R5389:4921524L21Rik
|
UTSW |
18 |
6,638,795 (GRCm39) |
missense |
probably benign |
0.14 |
|
R5428:4921524L21Rik
|
UTSW |
18 |
6,635,918 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5873:4921524L21Rik
|
UTSW |
18 |
6,630,167 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6120:4921524L21Rik
|
UTSW |
18 |
6,638,795 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R6345:4921524L21Rik
|
UTSW |
18 |
6,626,399 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R7246:4921524L21Rik
|
UTSW |
18 |
6,635,902 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7296:4921524L21Rik
|
UTSW |
18 |
6,626,385 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8796:4921524L21Rik
|
UTSW |
18 |
6,629,482 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8897:4921524L21Rik
|
UTSW |
18 |
6,635,934 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8930:4921524L21Rik
|
UTSW |
18 |
6,629,693 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8932:4921524L21Rik
|
UTSW |
18 |
6,629,693 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8991:4921524L21Rik
|
UTSW |
18 |
6,620,232 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9108:4921524L21Rik
|
UTSW |
18 |
6,638,794 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9235:4921524L21Rik
|
UTSW |
18 |
6,623,518 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R9642:4921524L21Rik
|
UTSW |
18 |
6,619,412 (GRCm39) |
critical splice donor site |
probably null |
|
|
Z1177:4921524L21Rik
|
UTSW |
18 |
6,635,865 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2013-10-07 |
Incidental Mutation